Also called: Also called: Inborn genetic brain disorders
A genetic disorder is a disease caused by a different form of a gene, called a variation, or a change in a gene, called a mutation. Genetic brain disorders specifically affect the development and function of the brain.
Some genetic brain disorders are due to random gene mutations or mutations caused by environmental exposure, such as cigarette smoke. Other disorders are inherited, which means that a mutated gene or group of genes is passed down through a family. Still other disorders are due to a combination of genetic changes and other outside factors. Some examples of genetic brain disorders include leukodystrophies, phenylketonuria, Tay-Sachs disease, and Wilson disease.
Many people with genetic brain disorders fail to produce enough of certain proteins that influence brain development and function. These brain disorders can cause serious problems that affect the nervous system. Some are life-threatening.
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MedlinePlus: Newborn Screening(National Library of Medicine) - http://www.nlm.nih.gov/medlineplus/newbornscreening.html
Also available in Spanish http://www.nlm.nih.gov/medlineplus/spanish/newbornscreening.html
- Cerebellar Degeneration(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/cerebellar_degeneration/cerebellar_degeneration.htm
- Citrullinemia(Save Babies Through Screening Foundation) - http://www.savebabies.org/diseasedescriptions/citrullinemia.php
- Colpocephaly(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/colpocephaly/Colpocephaly.htm
- Fabry's Disease(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/fabrys/fabrys.htm
- Fahr's Syndrome(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/fahrs/fahrs.htm
- Galactosemia(American Liver Foundation) - http://www.liverfoundation.org/education/info/galactosemia/
- Gerstmann-Straussler-Scheinker Disease(National Institute of Neurological Disorders and Stroke) - http://www.ninds.nih.gov/disorders/gss/gss.htm
- Homocystinuria(Save Babies Through Screening Foundation) - http://www.savebabies.org/diseasedescriptions/homocystinuria.php
- Joubert Syndrome(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/joubert/joubert.htm
- Leigh's Disease(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/leighsdisease/leighsdisease.htm
- Lesch-Nyhan Syndrome(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/lesch_nyhan/lesch_nyhan.htm
- Maple Syrup Urine Disease (MSUD)(Save Babies Through Screening Foundation) - http://www.savebabies.org/diseasedescriptions/msud.php
- Menkes Disease(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/menkes/menkes.htm
- Moyamoya Disease(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/moyamoya/moyamoya.htm
- Niemann-Pick Disease(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/niemann/niemann.htm
- Niemann-Pick Disease Overview(National Niemann-Pick Disease Foundation) - http://www.nnpdf.org/npdisease_01.html
- Nonketotic Hyperglycinemia (NKH)(Save Babies Through Screening Foundation) - http://www.savebabies.org/diseasedescriptions/nkh.php
- Tyrosinemia (TYR) - Type I, II & III(Save Babies Through Screening Foundation) - http://www.savebabies.org/diseasedescriptions/tyrosinemia.php
- What Is a Urea Cycle Disorder?(National Urea Cycle Disorders Foundation) - http://www.nucdf.org/ucd.htm
- Zellweger Syndrome(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/zellweger/zellweger.htm
- ClinicalTrials.gov: Brain Diseases, Metabolic, Inborn(National Institutes of Health) - http://clinicaltrials.gov/search/open/condition=%22Brain+Diseases,+Metabolic,+Inborn%22
- ClinicalTrials.gov: Niemann-Pick Diseases(National Institutes of Health) - http://clinicaltrials.gov/search/open/condition=%22Niemann-Pick+Diseases%22
- Genetics Home Reference: 2-hydroxyglutaric aciduria(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=2hydroxyglutaricaciduria
- Genetics Home Reference: Aromatic l-amino acid decarboxylase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=aromaticlaminoaciddecarboxylasedeficiency
- Genetics Home Reference: Fabry disease(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=fabrydisease
- Genetics Home Reference: GLUT1 deficiency syndrome(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=glut1deficiencysyndrome
- Genetics Home Reference: Glutaric acidemia type I(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=glutaricacidemiatypei
- Genetics Home Reference: Lesch-Nyhan syndrome(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=leschnyhansyndrome
- Genetics Home Reference: Menkes syndrome(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=menkessyndrome
- Genetics Home Reference: Prion disease(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=priondisease
- Genetics Home Reference: Succinic semialdehyde dehydrogenase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=succinicsemialdehydedehydrogenasedeficiency
- Article: Insulin therapy, hyperglycemia, and hypertension in type 1 diabetes mellitus. - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18809813&tool=MedlinePlus
- Article: Case records of the Massachusetts General Hospital. Case 28-2008. An... - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18784106&tool=MedlinePlus
- Article: Neurologic damage and neurocognitive dysfunction in urea cycle disorders. - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18708004&tool=MedlinePlus
- Genetic Brain Disorders -- see more articles - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=search&db=pubmed&term=brain+diseases,metabolic,inborn[majr]+NOT+(sphingolipidoses[majr]+OR+phenylketonurias[majr]+OR+hepatolenticular+degeneration[majr])+AND+humans[mh]+AND+english[la]+AND+(review[pt]+OR+guideline[pt]+OR+clinical+trial[pt]+OR+jsubsetk[text]+OR+jsubsetaim[text]+OR+jsubsetn[text]+OR+patient+education+handout[pt])+NOT+(letter[pt]+OR+editorial[pt])&doptcmdl=summary&cmd_current=Limits&pmfilter_EDatLimit=last+1+Year&tool=MedlinePlus
- Genetic and Rare Diseases Information Center(Office of Rare Diseases) - http://rarediseases.info.nih.gov/GARD/Default.aspx?PageID=4
- Laboratory Directory-GeneReviews(University of Washington) - http://www.genetests.org/servlet/access?id=8888891&key=xW0l31Z2a4hTc&fcn=y&fw=XPF9&filename=/labsearch/searchdztest.html
- US Clinic Directory Search(University of Washington) - http://www.genetests.org/servlet/access?id=8888891&key=yLoqrsrCVms-M&fcn=y&fw=ZDht&filename=/clinicsearch/searchclinic.html
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National Institute of Neurological Disorders and Stroke - http://www.ninds.nih.gov/
Also available in Spanish http://espanol.ninds.nih.gov/
- National Newborn Screening and Genetics Resource Center - http://genes-r-us.uthscsa.edu/
- Save Babies through Screening Foundation - http://www.savebabies.org/
- Genetic Disorders - http://www.nlm.nih.gov/medlineplus/geneticdisorders.html
- Genetic Testing - http://www.nlm.nih.gov/medlineplus/genetictesting.html
- Leukodystrophies - http://www.nlm.nih.gov/medlineplus/leukodystrophies.html
- Metabolic Disorders - http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html
- Phenylketonuria - http://www.nlm.nih.gov/medlineplus/phenylketonuria.html
- Tay-Sachs Disease - http://www.nlm.nih.gov/medlineplus/taysachsdisease.html
- Wilson Disease - http://www.nlm.nih.gov/medlineplus/wilsondisease.html
- Brain and Nerves - http://www.nlm.nih.gov/medlineplus/brainandnerves.html
- Genetics/Birth Defects - http://www.nlm.nih.gov/medlineplus/geneticsbirthdefects.html
- Metabolic Problems - http://www.nlm.nih.gov/medlineplus/metabolicproblems.html
The primary NIH organization for research on Genetic Brain Disorders is the National Institute of Neurological Disorders and Stroke - http://www.ninds.nih.gov/